Useful Support & Resources Links

Advocacy for All Rare Disease

• National Organization of Rare Disorders (NORD)
  They were the first national nonprofit to represent all individuals and families affected by rare disease. Today they are the only organization working at the intersection of care, research, policy, and community for all rare diseases.
• Genetic Metabolic Dietitians, International (GMDI)
  Their mission is to provide standards of excellence and leadership in nutrition therapy for genetic metabolic disorders through clinical practice, education, advocacy, and research.
• Society of Inherited Metabolic Disorders (SIMD)
  They are a professional organization which aims to increase knowledge of and promote research in inborn errors of metabolism in humans and to stimulate interactions between clinicians and investigators in inborn errors of metabolism.
• New England Consortium of Metabolic Programs
  Their mission is to of bring healthcare teams, patients, family advocacy groups and industry partners together to promote better clinical outcomes and quality of life.

Phenylketonuria (PKU) 

• National PKU Alliance (NPKUA)
  Their mission is to improve the lives of individuals with PKU, pursue a cure by expanding research and provide education and support to individuals living with PKU and their caregivers.
• Flok
  In July 2023, National PKU News became flok, expanding their outreach to all inherited disorders of protein metabolism and focusing on research in addition to support.
• The Canadian PKU and Allied disorders
  CANPKU+ is a national nonprofit organization working to improve the lives of individuals and families affected by PKU, Maple Syrup Urine Disease (MSUD), Homocystinuria (HCU), Urea Cycle Defects (UCDs), and related inherited metabolic disorders across Canada. Their mission is to empower and support this community by providing accurate education, advocacy, and essential resources that promote health, well-being, and access to quality care.
• New England Connection for PKU and Allied Disorders
  Their mission is to provide support and services to all individuals and families with PKU and allied disorders, and to encourage research and increase public awareness of the conditions.

Fatty Acid Oxidation Disorders (FAOD)

• Fatty Acid Oxidation Disorder Association
  Their mission is to connect and network with FOD Families and Professionals around the world and to provide emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment.

Glycogen Storage Disease (GSD)

• Association for Glycogen Storage Disease (AGSD)
  Their mission is to protect and promote the best interests of all persons and families affected by GSD; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

Homocystinuria (HCU)

• HCU Network America
  The mission of HCU Network America is to help patients with HCU and related disorders manage their disease and to find a cure. They stive to inform and provide resources for patients and families, create connections, influence state and federal policy, and support advancement of diagnosis and treatment for Homocystinuria (HCU) and related disorders.

Maple Syrup Urine Disease (MSUD)

• MSUD Family Support Group
  They are a non-profit, mostly volunteer-run organization serving families and professionals worldwide. Their goals include providing: support for families affected by Maple Syrup Urine Disease (MSUD); education about the condition and its management; and expanding research to advance treatments.

Organic Acidemias (OA)

• Propionic Acidemia Foundation (PAF)
  They are dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
• Organic Acidemia Association (OAA)
  Their mission is to empower families and healthcare professionals with knowledge in organic acidemia metabolic disorders. They support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Urea Cycle Disorders (UCD)

• National Urea Cycle Disorders Foundation
  The National Urea Cycle Disorders Foundation is a non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders. NUCDF is a nationally recognized resource of information and education for families and healthcare professionals. The National Urea Cycle Disorders Foundation is a non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders. NUCDF is a nationally recognized resource of information and education for families and healthcare professionals.